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Table 1 Genetic and clinical findings for the 19 unrelated patients analyzed by the present study

From: Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

IndividuaI’s ID

initial diagnostic request

gender

parental consan-guinity

age at referral [months]

subcuta-neous nodule

skin abnormalities

skeletal or muscle abnormalities

pain

joint involvement

coarse facies

visceral involvement

ANTXR2 variants identified (all in homozygous state)

1013011

ANTXR2

male

n.r.

8

+

+

+

 

+

  

c.1074delT

1019835

ANTXR2

female

n.r.

248

+

 

+

+

  

+

c.1180-?_1428 +?del

1030796

ANTXR2

male

n.r.

12

n.r.

c.1074delT

1034217

ANTXR2

female

n.r.

13

n.r.

c.1073dupC

1034651

ANTXR2

male

yes

6

n.r.

c.134 T > C

1062973

ANTXR2

male

yes

8

n.r.

c.1074delT

1083931

WES

female

yes

22

  

+

 

+

+

 

c.134 T > C

1111097

ANTXR2

male

n.r.

4

   

+

+

  

c.1074delT

1124610

ANTXR2

male

yes

1

+

+

 

+

+

  

c.134 T > C

1160661

ANTXR2

female

yes

65

+

+

+

 

+

 

+

c.1294C > T

1167266

WES

female

yes

16

+

 

+

 

+

  

c.652 T > C

1175869

WES

male

yes

3

 

+

+

+

  

+

c.720delT

1205436

ASAH1

male

yes

5

 

+

+

+

+

+

+

c.720delT

1206223

ASAH1

male

n.r.

18

+

 

+

+

+

  

c.994delC

1206224

WES

male

n.r.

17

+

 

+

+

+

+

 

c.1073delC

1218829

ASAH1

male

yes

10

+

+

+

 

+

+

 

c.1074delT

1219558

ASAH1

female

yes

15

+

 

+

 

+

  

c.1074delT

1223185

WES

male

n.r.

9

  

+

 

+

+

+

c.134 T > C

1234238

ASAH1

male

n.r.

8

+

+

+

+

   

c.51delC

  1. n.r. not reported